Significant advances have been made in recent years in the assessment and interpretation of the non-coding DNA that comprises 98% of our genome. Researchers both within and outside of the ENCODE project are studying gene regulation and expression, non-coding RNA, and other non-coding genome genome functions using multiple data sets and wide-ranging methods including in vitro, high-throughput, statistical, machine learning, and other computational analyses. This year’s meeting will explore these studies and the effects of genetic variation on human disease and other phenotypes.
Functional Characterization of Gene Regulatory Elements - Nadav Ahituv
Local and distant regulatory effects of genetic variation in 44 human tissues in the GTEx project - Barbara Engelhardt
The genomics of human physiological adaptation - Rasmus Nielsen
Massively Parallel Functional Analysis of Missense Mutations In BRCA1 for Interpreting Variants of Uncertain Significance - Lea Starita
TBA - Olga Troyanskaya
Functional Assays as a Tool for Clinical Annotation of BRCA1 VUS - Nicholas Woods
Genetic variations in the regulation of alternative splicing - Xinshu (Grace) Xiao
Tuesday 18th October 2016
Registration opens: 7.45 am
Meeting begins: 8.20 am
Meeting Ends: 3.45 pm (in time for the ASHG Plenary session).
Woods, Nicholas T.
Sorry - Abstract Submission has closed.
We invite abstracts to be submitted to the meeting within the theme of Non-Coding Variation for consideration as both oral and poster presentations. We also welcome other abstracts with general "variation" themes. Abstracts within the theme will be given priority for oral presentations. Please follow instructions on the Abstract page.
EARLYBIRD ENDS 15TH AUGUST 2016